Counsyl panel - confusing results :(

So my RE offered this as part of our preconception screening and I jumped at the chance, mainly because my husband is adopted and we don't know much about his ancestry. Plus we have a child with special needs (not a genetic syndrome) and I am now more well versed in what I can and can't handle and what risks I am willing to accept. Well of course I came up as a carrier for an obscure metabolic disorder, alpha antitrypsin deficiency. Which is something where 10 percent of the time an affected baby could have sever liver trouble but 90 percent of the time would be fine except for an increased risk of lung disease like COPD as an adult (after age 50). Yes, that is the bizarre manifestations of this syndrome. so my re won't proceed unless my husband gets tested too and odds are he's not a carrier but what if he is?!?! Am I really not supposed to proceed because there would be (if he is a carrier) a 25 percent chance of having a child that would have a ten percent chance of having liver disease OR Lung disease as an older adult? I mean really. What useless knowledge. I am so upset I even did this because now if my husband is a carrier I feel like I can't proceed for a possibility of a syndrome that primarily manifests as copd in someone's 60s. But of course there is the 25 percent chance of having a child that has a syndrome in which ten precent of kids will have serious liver disease.

I know I am getting ahead of myself. And it's not like I was told I'm a carrier for something horrid. But now I just going to be a ball of nerves till my husband gets tested and I'm afraid I'll have to abandon our plans for a baby :(

Counsyl panel - confusing results :(

Try to relax until your dh gets tested. I would think the chances of him also being a carrier are very low. Right now you only have half the answers to the equation

Counsyl panel - confusing results :(

I did the counsyl test when I first got pregnant. I am a carrier for Factor XI Deficiency. As someone with a physical disability (Cerebral Palsy) I was pretty clear with my DH about what I could and could not handle as well.

I spoke with my doctor about what would happen if DH was also a carrier,he advised we would do an amnio to rule it out, but any decisions would be ours to make, since there are no life threatening consequences

That being said, the chances of your DH being a carrier are super small. Mine wasn't, and while the wait for the results was agonizing, you'll get through it.

Re: Counsyl panel - confusing results :(

Thank you for the responses . I will try and keep calm :) and congrats to you Joanneandjustin! My 2 yo son has CP as well. Mild spastic diplegia. He's doing great. Good luck with the remainder of your pregnancy! So happy to hear of happy outcomes, both with CP and IF :)

Message edited 6/18/2014 8:06:29 PM.

Counsyl panel - confusing results :(

Thanks, I am also mild spastic diplegia. My pregnancy has gone well, but it's rough with CP. Your son will be awesome, if you have any questions, feel free to FM me.